MCID: ORF025
MIFTS: 16

Orofacial Cleft 6

Categories: Genetic diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Orofacial Cleft 6

MalaCards integrated aliases for Orofacial Cleft 6:

Name: Orofacial Cleft 6 57 75 13
Orofacial Cleft 6, Susceptibility to 57 29 6
Ofc6 57 75
Cleft Lip with or Without Cleft Palate, Nonsyndromic, 6 57
Non-Syndromic Cleft Lip with or Without Cleft Palate 6 75
Non-Syndromic Cleft Lip/palate 6 75
Non-Syndromic Orofacial Cleft 6 75
Orofacial Cleft, Type 6 40

Characteristics:

OMIM:

57
Inheritance:
isolated cases

Miscellaneous:
genetic heterogeneity (see ofc1, )
allelic disorder to van der woude syndrome (vws, ) and popliteal pterygium syndrome (pps, )


HPO:

32
orofacial cleft 6:
Inheritance heterogeneous sporadic polygenic inheritance


Classifications:



External Ids:

OMIM 57 608864
MedGen 42 C1837213
MeSH 44 D002971
SNOMED-CT via HPO 69 63567004 87979003 80281008

Summaries for Orofacial Cleft 6

UniProtKB/Swiss-Prot : 75 Non-syndromic orofacial cleft 6: A birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum.

MalaCards based summary : Orofacial Cleft 6, is also known as orofacial cleft 6, susceptibility to. An important gene associated with Orofacial Cleft 6 is IRF6 (Interferon Regulatory Factor 6). Related phenotypes are cleft palate and cleft upper lip

Description from OMIM: 608864

Related Diseases for Orofacial Cleft 6

Symptoms & Phenotypes for Orofacial Cleft 6

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Mouth:
cleft lip, isolated
cleft palate, isolated
cleft lip and cleft palate


Clinical features from OMIM:

608864

Human phenotypes related to Orofacial Cleft 6:

32
# Description HPO Frequency HPO Source Accession
1 cleft palate 32 HP:0000175
2 cleft upper lip 32 HP:0000204

Drugs & Therapeutics for Orofacial Cleft 6

Search Clinical Trials , NIH Clinical Center for Orofacial Cleft 6

Genetic Tests for Orofacial Cleft 6

Genetic tests related to Orofacial Cleft 6:

# Genetic test Affiliating Genes
1 Orofacial Cleft 6, Susceptibility to 29 IRF6

Anatomical Context for Orofacial Cleft 6

Publications for Orofacial Cleft 6

Variations for Orofacial Cleft 6

UniProtKB/Swiss-Prot genetic disease variations for Orofacial Cleft 6:

75
# Symbol AA change Variation ID SNP ID
1 IRF6 p.Phe369Ser VAR_014988

ClinVar genetic disease variations for Orofacial Cleft 6:

6
(show all 26)
# Gene Variation Type Significance SNP ID Assembly Location
1 IRF6 NM_006147.3(IRF6): c.1210G> A (p.Glu404Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs769068305 GRCh37 Chromosome 1, 209961959: 209961959
2 IRF6 NM_006147.3(IRF6): c.1210G> A (p.Glu404Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs769068305 GRCh38 Chromosome 1, 209788614: 209788614
3 IRF6 NM_006147.3(IRF6): c.226C> T (p.Pro76Ser) single nucleotide variant Pathogenic/Likely pathogenic rs886039388 GRCh37 Chromosome 1, 209969846: 209969846
4 IRF6 NM_006147.3(IRF6): c.226C> T (p.Pro76Ser) single nucleotide variant Pathogenic/Likely pathogenic rs886039388 GRCh38 Chromosome 1, 209796501: 209796501
5 IRF6 NM_006147.3(IRF6): c.-75-4A> G single nucleotide variant Benign rs2235377 GRCh38 Chromosome 1, 209802047: 209802047
6 IRF6 NM_006147.3(IRF6): c.-75-4A> G single nucleotide variant Benign rs2235377 GRCh37 Chromosome 1, 209975392: 209975392
7 IRF6 NM_006147.3(IRF6): c.1268T> G (p.Ile423Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 209788556: 209788556
8 IRF6 NM_006147.3(IRF6): c.1268T> G (p.Ile423Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 209961901: 209961901
9 IRF6 NM_006147.3(IRF6): c.964T> A (p.Tyr322Asn) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 209790591: 209790591
10 IRF6 NM_006147.3(IRF6): c.964T> A (p.Tyr322Asn) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 209963936: 209963936
11 IRF6 NM_006147.3(IRF6): c.1055T> G (p.Leu352Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 209963845: 209963845
12 IRF6 NM_006147.3(IRF6): c.1055T> G (p.Leu352Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 209790500: 209790500
13 IRF6 NM_006147.3(IRF6): c.82T> G (p.Trp28Gly) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 209974677: 209974677
14 IRF6 NM_006147.3(IRF6): c.82T> G (p.Trp28Gly) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 209801332: 209801332
15 IRF6 NM_006147.3(IRF6): c.242C> A (p.Ala81Asp) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 209969830: 209969830
16 IRF6 NM_006147.3(IRF6): c.242C> A (p.Ala81Asp) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 209796485: 209796485
17 IRF6 NM_006147.3(IRF6): c.889G> A (p.Val297Ile) single nucleotide variant Uncertain significance rs779827384 GRCh38 Chromosome 1, 209790666: 209790666
18 IRF6 NM_006147.3(IRF6): c.889G> A (p.Val297Ile) single nucleotide variant Uncertain significance rs779827384 GRCh37 Chromosome 1, 209964011: 209964011
19 IRF6 NM_006147.3(IRF6): c.264T> A (p.Asn88Lys) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 209969808: 209969808
20 IRF6 NM_006147.3(IRF6): c.264T> A (p.Asn88Lys) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 209796463: 209796463
21 IRF6 NM_006147.3(IRF6): c.260T> C (p.Leu87Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 209969812: 209969812
22 IRF6 NM_006147.3(IRF6): c.260T> C (p.Leu87Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 209796467: 209796467
23 IRF6 NM_006147.3(IRF6): c.1368delC (p.Ser457Alafs) deletion Uncertain significance GRCh38 Chromosome 1, 209788456: 209788456
24 IRF6 NM_006147.3(IRF6): c.1368delC (p.Ser457Alafs) deletion Uncertain significance GRCh37 Chromosome 1, 209961801: 209961801
25 IRF6 NM_006147.3(IRF6): c.668-5T> G single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 209790892: 209790892
26 IRF6 NM_006147.3(IRF6): c.668-5T> G single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 209964237: 209964237

Expression for Orofacial Cleft 6

Search GEO for disease gene expression data for Orofacial Cleft 6.

Pathways for Orofacial Cleft 6

GO Terms for Orofacial Cleft 6

Sources for Orofacial Cleft 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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